Liver Transplantation for Familial Amyloid Polyneuropathy (Val30Met): Long-Term Follow-up Prospective Study in a...

Familial amyloidosis polyneuropathy (FAP) is a rare, progressive, and life-threatening disease inherited in the autosomal dominant pattern. Liver transplantation is the only proven disease-modifying treatment to date.

To study the long-term outcomes of patients transplanted for FAP under a multidisciplinary team care.

We included adult patients who were transplanted for FAP indication and were followed up in a relevant clinic or admitted in our department.

Twelve patients (6 male) with a mean age of 43 years and mean follow-up post-transplant of 100 months were included. Three patients died in this period, 1 due to a disease-related cause. All patients had peripheral neuropathy (25% severe). Eighty-three percent had autonomic nervous system dysfunction; all men, except one, erectile dysfunction; and half of the patients several genitourinary manifestations. Gastrointestinal involvement was present in 75% of the patients. The severity of several complications related to FAP was found to be associated with waiting on the transplant list for more than 12 months.

Patients transplanted for FAP have a long survival. Prolonged stay on the transplant waiting list is associated with frequency and severity of disease complications. These patients are best managed in the context of multidisciplinary team care.